ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3815-20C>T

gnomAD frequency: 0.00051  dbSNP: rs201878712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125677 SCV000169139 benign not specified 2013-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000125677 SCV000305204 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002055590 SCV002414360 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002055590 SCV004016183 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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